期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 155A, 期 8, 页码 1803-1816出版社
WILEY
DOI: 10.1002/ajmg.a.34113
关键词
fragile X syndrome; FXTAS; FXPO1; FMR1 gene; pharmacological approaches
资金
- Telethon Foundation
- FRAXA Foundation
- ConquerFragileX Foundation
- Italian Ministry of University and Research
The fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency are conditions related to the X chromosome folate-sensitive fragile site FRAXA. Therefore, we propose that they are considered as a family of disorders under the general designation of FRAXopathies. The present review will outline the main clinical and molecular features of these disorders, with special emphasis on the pathogenic mechanisms that lead to distinct phenotypes, starting from related mutations. The understanding of these mechanisms is already generating promising therapeutic approaches. (C) 2011 Wiley-Liss, Inc.
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